| Literature DB >> 19136953 |
Ingo Helbig1, Heather C Mefford, Andrew J Sharp, Michel Guipponi, Marco Fichera, Andre Franke, Hiltrud Muhle, Carolien de Kovel, Carl Baker, Sarah von Spiczak, Katherine L Kron, Ines Steinich, Ailing A Kleefuss-Lie, Costin Leu, Verena Gaus, Bettina Schmitz, Karl M Klein, Philipp S Reif, Felix Rosenow, Yvonne Weber, Holger Lerche, Fritz Zimprich, Lydia Urak, Karoline Fuchs, Martha Feucht, Pierre Genton, Pierre Thomas, Frank Visscher, Gerrit-Jan de Haan, Rikke S Møller, Helle Hjalgrim, Daniela Luciano, Michael Wittig, Michael Nothnagel, Christian E Elger, Peter Nürnberg, Corrado Romano, Alain Malafosse, Bobby P C Koeleman, Dick Lindhout, Ulrich Stephani, Stefan Schreiber, Evan E Eichler, Thomas Sander.
Abstract
We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date.Entities:
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Year: 2009 PMID： 19136953 PMCID： PMC3026630 DOI： 10.1038/ng.292
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330